Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Congenital Heart Defect v0.277 PLXND1 Zornitza Stark Phenotypes for gene: PLXND1 were changed from Congenital heart disease, MONDO:0005453, PLXND1-related to Congenital heart defects, multiple types, 9, MIM# 620294
Congenital Heart Defect v0.276 PLXND1 Zornitza Stark edited their review of gene: PLXND1: Changed phenotypes: Congenital heart defects, multiple types, 9, MIM# 620294
Congenital Heart Defect v0.274 PLXND1 Zornitza Stark Marked gene: PLXND1 as ready
Congenital Heart Defect v0.274 PLXND1 Zornitza Stark Gene: plxnd1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.274 PLXND1 Zornitza Stark Classified gene: PLXND1 as Green List (high evidence)
Congenital Heart Defect v0.274 PLXND1 Zornitza Stark Gene: plxnd1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.273 PLXND1 Zornitza Stark gene: PLXND1 was added
gene: PLXND1 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXND1 were set to 35396997
Phenotypes for gene: PLXND1 were set to Congenital heart disease, MONDO:0005453, PLXND1-related
Review for gene: PLXND1 was set to GREEN
Added comment: 10 individuals including four fetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT)/truncus arteriosus.
Sources: Literature